Canonical Allele Identifier: CA10648771

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 329458
• ClinVar RCV Id: RCV000270318
• dbSNP Id: rs537917972
• gnomAD v2: 19-45452622-T-C
• gnomAD v3: 19-44949365-T-C
• gnomAD v4: 19-44949365-T-C
• MyVariant Identifiers: chr19:g.45452622T>C (hg19) ; chr19:g.44949365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949365T>C , CM000681.2:g.44949365T>C	GRCh38
NC_000019.9:g.45452622T>C , CM000681.1:g.45452622T>C	GRCh37
NC_000019.8:g.50144462T>C	NCBI36
NG_008837.1:g.8380T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.*116T>C (APOC2) MANE Select	ENSP00000252490.5:n.*116T>C
ENST00000252490.5:c.*116T>C (APOC4-APOC2)	ENSP00000252490.4:n.*116T>C
ENST00000585685.5:c.*1205T>C (APOC4-APOC2)	ENSP00000467185.1:n.*1205T>C
ENST00000589057.5:c.*116T>C (APOC4-APOC2)	ENSP00000468139.1:n.*116T>C
ENST00000590360.2:c.*116T>C (APOC2)	ENSP00000466775.1:n.*116T>C
ENST00000591597.5:c.*116T>C (APOC2)	ENSP00000476835.1:n.*116T>C
ENST00000592257.5:c.*216T>C (APOC2)	ENSP00000477261.1:n.*216T>C
NM_000483.4:c.*116T>C (APOC2)	NP_000474.2:n.*116T>C
NR_037932.1:n.1629T>C (APOC4-APOC2)
NM_000483.5:c.*116T>C (APOC2) MANE Select	NP_000474.2:n.*116T>C